keratoconus, familial, with early-onset anterior polar cataract
|
13678 |
|
true posterior wall infarction
|
3672 |
|
fatal infantile, with olivopontocerebellar hypoplasia encephalopathy
|
C536716 |
|
cone dystrophy with night blindness and supernormal rod responses, KCNV2-Related
|
C563678 |
|
sensorineural deafness with pituitary dwarfism
|
C536710 |
|
mental retardation, x-linked, with congenital contractures and low fingertip arches
|
C536703 |
|
type 9 xeroderma pigmentosum
|
C536765 |
|
variant type xeroderma pigmentosum
|
C536766 |
|
trisomy xpter xq13 x chromosome
|
C536731 |
|
zori stalker williams syndrome
|
C536728 |
|
fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly
|
C536725 |
|
Radial-ulnar hypoplasia with bone marrow failure and-or leukemia
|
C536751 |
|